Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Hum Mutat. 2011 May;32(5):495-500. doi: 10.1002/humu.21468.
Recent developments, including next-generation sequencing (NGS), bio-ontologies and the Semantic Web, and the growing role of hospital information technology (IT) systems and electronic health records, amass ever-increasing amounts of data before human genetics scientists and clinicians. However, they have ever-improving tools to analyze those data for research and clinical care. Correspondingly, the field of bioinformatics is turning to research questions in the field of human genetics, and the field of human genetics is making greater use of bioinformatic algorithms and tools. The choice of "Bioinformatics and Human Genetics" as the topic of this special issue of Human Mutation reflects this new importance of bioinformatics and medical informatics in human genetics. Experts from among the attendees of the Paris 2010 Human Variome Project symposium provide a survey of some of the "hot" computational topics over the next decade. These experts identify the promise-what human geneticists who are not themselves bioinformaticians stand to gain-as well as the challenges and unmet needs that are likely to represent fruitful areas of research.
最近的发展，包括下一代测序（NGS）、生物本体和语义网，以及医院信息技术（IT）系统和电子健康记录的作用不断增强，在人类遗传学家和临床医生之前积累了越来越多的数据。然而，他们有不断改进的工具来分析这些数据用于研究和临床护理。相应地，生物信息学领域正在转向人类遗传学领域的研究问题，而人类遗传学领域也在越来越多地使用生物信息学算法和工具。选择“生物信息学和人类遗传学”作为本期《人类突变》特刊的主题反映了生物信息学和医学信息学在人类遗传学中的新重要性。来自 2010 年巴黎人类变异组计划研讨会的与会者中的专家提供了对未来十年一些“热门”计算主题的调查。这些专家确定了承诺——不是生物信息学家的人类遗传学家可能获得的——以及可能代表富有成效的研究领域的挑战和未满足的需求。
